Thyroid Hemiagenesis (THA) is an uncommon congenital disorder characterized by the failure of one thyroid lobe with or without the isthmus to develop. This condition may arise from an abnormal descent or agenesis of the thyroid tissue. Many cases of THA remain asymptomatic and are frequently detected incidentally. This report presents a patient with multinodular goiter, concomitant left-sided thyroid, and renal agenesis. A 40-year-old male presented with a longstanding progressive thyroid enlargement, exhibiting euthyroid status. The patient reported compressive symptoms, including dysphagia, dyspnea, and hoarseness due to the goiter's size. This case report documents the first known case of concurrent THA and Unilateral Renal Agenesis (URA), underscoring the importance of thorough preoperative evaluation for congenital anomalies in THA patients. The absence of the left-sided paired organs in this patient adds to the growing body of literature on the association between these congenital abnormalities.
Castanet, M., Leenhardt, L., Léger, J., Simon-Carré, A., Lyonnet, S., Pelet, A., Czernichow, P., & Polak, M. (2005). Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatric Research, 57(6), 908-913. https://doi.org/10.1203/01.PDR.0000161409.04177.36
Gurleyik, G., & Gurleyik, E. (2015). Thyroid hemiagenesis associated with hyperthyroidism. Case Reports in Otolaryngology, 2015, https://doi.org/10.1155/2015/829712829712.
Hermanns, P., Grasberger, H., Cohen, R., Freiberg, C., Dörr, G., Refetoff, S., & Pohlenz, J. (2013). Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: In vitro studies reveal different pathogenic mechanisms. Thyroid, 23(7), 791-796. https://doi.org/10.1089/thy.2012.0141
Karabay, N., Comlekci, A., Canda, M. S., Bayraktar, F., & Degirmenci, B. (2003). Thyroid hemiagenesis with multinodular goiter: A case report and review of the literature. Endocrine Journal, 50(4), 409-413. https://doi.org/10.1507/endocrj.50.409
Kirdak, T., Gulcu, B., & Korun, N. (2014). Thyroid hemiagenesis associated with retrosternal nodular goiter: A case report. Acta Medica Iranica, 52(9), 725726. PMID: 25325212
Lesi, O. K., Thapar, A., Appaiah, N. N. B., Iqbal, M. R., Kumar, S., Maharaj, D., Saad Abdalla Al-Zawi, A., & Dindyal, S. (2022). Thyroid hemiagenesis: Narrative review and clinical implications. Cureus, 14(2), e22401. https://doi.org/10.7759/cureus.22401
Melnick, J. C., & Stemkowski, P. E. (1981). Thyroid hemiagenesis (hockey stick sign): A review of the world literature and a report of four cases. The Journal of Clinical Endocrinology & Metabolism, 52(2), 247-251. https://doi.org/10.1210/jcem-52-2-247
Mikosch, P., Gallowitsch, H. J., Kresnik, E., et al. (1999). Thyroid hemiagenesis in an endemic goiter area diagnosed by ultrasonography: Report of sixteen patients. Thyroid, 9(11), 1075-1084. https://doi.org/10.1089/thy.1999.9.1075
Mikosch, P., Weixlbaumer, V., Irrgang, M., Aistleitner, A., & Trifina-Mikosch, E. (2020). Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance? Wiener Klinische Wochenschrift, 170, 403-409. https://doi.org/10.1007/s10354-02000783-w
Plachov, D., Chowdhury, K., Walther, C., Simon, D., Guenet, J. L., & Gruss, P. (1990). Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development, 110(2), 643-651. https://doi.org/10.1242/dev.110.2.643
Ruchala, M., Szczepanek, E., Szaflarski, W., et al. (2010). Increased risk of thyroid pathology in patients with thyroid hemiagenesis: Results of a large cohort casecontrol study. European Journal of Endocrinology, 162, 153-160. https://doi.org/10.1530/EJE-09-0590
Sereke, S. G., Oriekot, A., & Bongomin, F. (2021). Thyroid hemiagenesis with a TI-RADS 2 nodule in the contralateral lobe. Thyroid Research, 14, 10. https://doi.org/10.1186/s13044-021-00101-5
Shabana, W., Delange, F., Freson, M., Osteaux, M., & De Schepper, J. (2000). Prevalence of thyroid hemiagenesis: Ultrasound screening in normal children. European Journal of Pediatrics, 159, 456-458. https://doi.org/10.1007/s004310051307
Szczepanek, E., Ruchala, M., Szaflarski, W., et al. (2011). FOXE1 polyalanine tract length polymorphism in patients with thyroid hemiagenesis and subjects with normal thyroid. Hormone Research in Paediatrics, 75, 329-334. https://doi.org/10.1159/000322874
Westland, R., Schreuder, M. F., Ket, J. C., & van Wijk, J. A. (2013). Unilateral renal agenesis: A systematic review on associated anomalies and renal injury. Nephrology Dialysis Transplantation, 28(7), 1844-1855. https://doi.org/10.1093/ndt/gft012
Castanet, M., Leenhardt, L., Léger, J., Simon-Carré, A., Lyonnet, S., Pelet, A., Czernichow, P., & Polak, M. (2005). Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases. Pediatric Research, 57(6), 908-913. https://doi.org/10.1203/01.PDR.0000161409.04177.36
Gurleyik, G., & Gurleyik, E. (2015). Thyroid hemiagenesis associated with hyperthyroidism. Case Reports in Otolaryngology, 2015, https://doi.org/10.1155/2015/829712829712.
Hermanns, P., Grasberger, H., Cohen, R., Freiberg, C., Dörr, G., Refetoff, S., & Pohlenz, J. (2013). Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: In vitro studies reveal different pathogenic mechanisms. Thyroid, 23(7), 791-796. https://doi.org/10.1089/thy.2012.0141
Karabay, N., Comlekci, A., Canda, M. S., Bayraktar, F., & Degirmenci, B. (2003). Thyroid hemiagenesis with multinodular goiter: A case report and review of the literature. Endocrine Journal, 50(4), 409-413. https://doi.org/10.1507/endocrj.50.409
Kirdak, T., Gulcu, B., & Korun, N. (2014). Thyroid hemiagenesis associated with retrosternal nodular goiter: A case report. Acta Medica Iranica, 52(9), 725726. PMID: 25325212
Lesi, O. K., Thapar, A., Appaiah, N. N. B., Iqbal, M. R., Kumar, S., Maharaj, D., Saad Abdalla Al-Zawi, A., & Dindyal, S. (2022). Thyroid hemiagenesis: Narrative review and clinical implications. Cureus, 14(2), e22401. https://doi.org/10.7759/cureus.22401
Melnick, J. C., & Stemkowski, P. E. (1981). Thyroid hemiagenesis (hockey stick sign): A review of the world literature and a report of four cases. The Journal of Clinical Endocrinology & Metabolism, 52(2), 247-251. https://doi.org/10.1210/jcem-52-2-247
Mikosch, P., Gallowitsch, H. J., Kresnik, E., et al. (1999). Thyroid hemiagenesis in an endemic goiter area diagnosed by ultrasonography: Report of sixteen patients. Thyroid, 9(11), 1075-1084. https://doi.org/10.1089/thy.1999.9.1075
Mikosch, P., Weixlbaumer, V., Irrgang, M., Aistleitner, A., & Trifina-Mikosch, E. (2020). Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance? Wiener Klinische Wochenschrift, 170, 403-409. https://doi.org/10.1007/s10354-02000783-w
Plachov, D., Chowdhury, K., Walther, C., Simon, D., Guenet, J. L., & Gruss, P. (1990). Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development, 110(2), 643-651. https://doi.org/10.1242/dev.110.2.643
Ruchala, M., Szczepanek, E., Szaflarski, W., et al. (2010). Increased risk of thyroid pathology in patients with thyroid hemiagenesis: Results of a large cohort casecontrol study. European Journal of Endocrinology, 162, 153-160. https://doi.org/10.1530/EJE-09-0590
Sereke, S. G., Oriekot, A., & Bongomin, F. (2021). Thyroid hemiagenesis with a TI-RADS 2 nodule in the contralateral lobe. Thyroid Research, 14, 10. https://doi.org/10.1186/s13044-021-00101-5
Shabana, W., Delange, F., Freson, M., Osteaux, M., & De Schepper, J. (2000). Prevalence of thyroid hemiagenesis: Ultrasound screening in normal children. European Journal of Pediatrics, 159, 456-458. https://doi.org/10.1007/s004310051307
Szczepanek, E., Ruchala, M., Szaflarski, W., et al. (2011). FOXE1 polyalanine tract length polymorphism in patients with thyroid hemiagenesis and subjects with normal thyroid. Hormone Research in Paediatrics, 75, 329-334. https://doi.org/10.1159/000322874
Westland, R., Schreuder, M. F., Ket, J. C., & van Wijk, J. A. (2013). Unilateral renal agenesis: A systematic review on associated anomalies and renal injury. Nephrology Dialysis Transplantation, 28(7), 1844-1855. https://doi.org/10.1093/ndt/gft012